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In our cohort of >300 familial cases of autosomal-recessive retinitis pigmentosa, PKRP004 is the only family harboring a mutation in IMPDH1.
A novel mutation, p.L270R in IMPDH1, was found to be retinitis pigmentosa-causing in one family.
p53 (show TP53 ELISA Kits) has a novel function in regulating purine biosynthesis, aided by miR (show MLXIP ELISA Kits)-34a-dependent IMPDH repression.
IMPDH1 mutation is associated with retinitis pigmentosa.
The mutation frequency of IMPDH1 gene of the Han population in Ganzhou city was similar as approximately 2-5% of the autosomal dominant retinitis pigmentosa cases among Americans of European origin and Europeans.
resequenced IMPDH1 and IMPDH2 (show IMPDH2 ELISA Kits) using DNA from 288 individuals from three ethnic groups and performed functional genomic studies of the sequence variants observed; identified 73 single nucleotide polymorphisms in IMPDH1, 59 novel
Inosine 5'-monophosphate dehydrogenase 1 haplotypes have a role in mycophenolate mofetil gastrointestinal intolerance in pediatric heart transplant patients
The risk of subclinical acute rejection for recipients who cannot adapt in therapeutic drug monitoring of mycophenolic acid seems to be influenced by IMPDH1 rs2278293 polymorphism.
In this small sample of pediatric heart transplant patients receiving MMF, ABCC2, IMPDH1 and IMPDH2 SNPs were associated with MMF GI intolerance and bone marrow toxicity.
A novel IMPDH1 gene mutation (Arg231Pro) was associated with a severe form of autosomal dominant retinitis pigmentosa.
We conclude that both IMPDH and HPRT (show HPRT1 ELISA Kits) activities contribute to normal T-lymphocyte activation and function
Retinitis pigmentosa-causing mutations identified in IMPDH1 gene. High level of IMPDH1 in photoreceptors, low levels in other layers of retina.
IMPDH1 mutations cause photoreceptor degeneration in retinitis pigmentosa
IMP (show BRAP ELISA Kits) dehydrogenase type 1 associates with polyribosomes translating rhodopsin (show RHO ELISA Kits) mRNA
The protein encoded by this gene acts as a homotetramer to regulate cell growth. The encoded protein is an enzyme that catalyzes the synthesis of xanthine monophosphate (XMP) from inosine-5'-monophosphate (IMP). This is the rate-limiting step in the de novo synthesis of guanine nucleotides. Defects in this gene are a cause of retinitis pigmentosa type 10 (RP10). Several transcript variants encoding different isoforms have been found for this gene.
IMP (inosine monophosphate) dehydrogenase 1
, IMP dehydrogenase 1
, IMPD 1
, IMPDH 1
, inosine-5'-monophosphate dehydrogenase 1
, inosine 5'-phosphate dehydrogenase 1
, inosine monophosphate dehydrogenase 1
, IMP (inosine 5'-monophosphate) dehydrogenase 1
, IMP (inosine monophosphate) dehydrogenase 1-like
, inosine-5'-monophosphate dehydrogenase 1-like
, IMP dehydrogenase 1b
, inosine-5'-monophosphate dehydrogenase 1b